Marco A Marra

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Marco A



Publications in SciGraph latest 50 shown

  • 2019-04 A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8 in JOURNAL OF HUMAN GENETICS
  • 2019-01 Transcriptomic analysis of CIC and ATXN1L reveal a functional relationship exploited by cancer in ONCOGENE
  • 2018-12 Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma in NATURE COMMUNICATIONS
  • 2018-12 Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma in NPJ PRECISION ONCOLOGY
  • 2018-10 The genetic basis and cell of origin of mixed phenotype acute leukaemia in NATURE
  • 2018-01 The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions in NATURE MEDICINE
  • 2017-12 Increasing quality, throughput and speed of sample preparation for strand-specific messenger RNA sequencing in BMC GENOMICS
  • 2017-12 Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability in BMC GENOMICS
  • 2017-10 A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor in NATURE GENETICS
  • 2017-07 The whole-genome landscape of medulloblastoma subtypes in NATURE
  • 2017-06 Genomic consequences of aberrant DNA repair mechanisms stratify ovarian cancer histotypes in NATURE GENETICS
  • 2017-05 Spatial heterogeneity in medulloblastoma in NATURE GENETICS
  • 2016-07 Tracking of Normal and Malignant Progenitor Cell Cycle Transit in a Defined Niche in SCIENTIFIC REPORTS
  • 2016-07 Divergent modes of clonal spread and intraperitoneal mixing in high-grade serous ovarian cancer in NATURE GENETICS
  • 2016-07 A somatic reference standard for cancer genome sequencing in SCIENTIFIC REPORTS
  • 2016-01 Divergent clonal selection dominates medulloblastoma at recurrence in NATURE
  • 2015-12 GLI2 inhibition abrogates human leukemia stem cell dormancy in JOURNAL OF TRANSLATIONAL MEDICINE
  • 2015-12 MEF2B mutations in non-Hodgkin lymphoma dysregulate cell migration by decreasing MEF2B target gene activation in NATURE COMMUNICATIONS
  • 2015-12 Epigenetic and transcriptional determinants of the human breast in NATURE COMMUNICATIONS
  • 2015-12 Integrated genomics elucidates relative spatial homogeneity of embryonal brain tumors in MOLECULAR AND CELLULAR PEDIATRICS
  • 2015-12 Intermediate DNA methylation is a conserved signature of genome regulation in NATURE COMMUNICATIONS
  • 2015-12 MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours in NATURE COMMUNICATIONS
  • 2015-12 Comprehensive miRNA sequence analysis reveals survival differences in diffuse large B-cell lymphoma patients in GENOME BIOLOGY
  • 2015-12 Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development in BMC GENOMICS
  • 2015-12 The genomic and transcriptomic landscape of anaplastic thyroid cancer: implications for therapy in BMC CANCER
  • 2015-02 Integrative analysis of 111 reference human epigenomes in NATURE
  • 2015-02 Dynamics of genomic clones in breast cancer patient xenografts at single-cell resolution in NATURE
  • 2014-12 Regulatory network decoded from epigenomes of surface ectoderm-derived cell types in NATURE COMMUNICATIONS
  • 2014-12 Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-09 The Molecular Landscape of Pediatric Brain Tumors in the Next-Generation Sequencing Era in CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
  • 2014-07-23 Comprehensive molecular characterization of gastric adenocarcinoma in NATURE
  • 2014-07-09 Comprehensive molecular profiling of lung adenocarcinoma in NATURE
  • 2014-06 Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-05 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4 in NATURE GENETICS
  • 2014-04 Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma in NATURE GENETICS
  • 2013-12 Genomic testing to determine drug response: measuring preferences of the public and patients using Discrete Choice Experiment (DCE) in BMC HEALTH SERVICES RESEARCH
  • 2013-07 DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape in NATURE GENETICS
  • 2013-05 Cancer genome-sequencing study design in NATURE REVIEWS GENETICS
  • 2013-05-01 Integrated genomic characterization of endometrial carcinoma in NATURE
  • 2013-04 Novel mRNA isoforms and mutations of uridine monophosphate synthetase and 5-fluorouracil resistance in colorectal cancer in THE PHARMACOGENOMICS JOURNAL
  • 2013-03 The genetic landscape of high-risk neuroblastoma in NATURE GENETICS
  • 2013-03 Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma in ACTA NEUROPATHOLOGICA
  • 2013-03 Identification and analysis of murine pancreatic islet enhancers in DIABETOLOGIA
  • 2012-10 MKNK1 is a YB-1 target gene responsible for imparting trastuzumab resistance and can be blocked by RSK inhibition in ONCOGENE
  • 2012-09-23 Comprehensive molecular portraits of human breast tumours in NATURE
  • 2012-08 Subgroup-specific structural variation across 1,000 medulloblastoma genomes in NATURE
  • 2012-06 BCL2 mutations in diffuse large B-cell lymphoma in LEUKEMIA
  • 2012-06 The clonal and mutational evolution spectrum of primary triple-negative breast cancers in NATURE
  • 2012-05 Barriers to integrating personalized medicine into clinical practice: a best–worst scaling choice experiment in GENETICS IN MEDICINE
  • 2012-04 Subgroup-specific alternative splicing in medulloblastoma in ACTA NEUROPATHOLOGICA
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